Kathleen is a 13 yo young lady – she presents to the ED with her Mum. She is a petite girl wearing a fluorescent leotard and supporting a sore wrist. The triage note states: “Gymnastics injury ? # distal radius”
She sure is tender over the dorsal aspect of her distal radius. The bedside ultrasound shows a bit of tissue oedema – but no definitive fracture. So might as well get an Xray!
There is a bit of a wait for the Xray as the department is backed up, and it is a slow afternoon in ED – so you decide to make a bit of medical small talk.
Kathleen is a super-keen gymnast – her mother has been coaching her since she was 5 and they think she has a shot at getting into the summer training camp at the AIS.
You take a bit of a glance through her old notes – it is pretty benign aside from a UTI at age 2 yrs and a really long run of acute otits media presentations throughout her primary school years.
One of the junior RMOs thought they heard a systolic murmur during a febrile earache a few years back – no follow up documented.
She seems to have been pretty well over the last 3 years – no ED presentations since age 10 years.
(1)This is Turner’s syndrome – possibly a mosaic pattern if not all features are present and a late presentation. Though about 30% of 45XO are diagnosed in adolescence – probably less nowadays with the use of widespread antenatal screening.
(2) Other features on history – delayed menarche (ask about sibs etc), heart defects, renal defects – eg. horseshoe, UTIs, recurrent otitis media osteoporosis, scoliosis,
Exam findings – oedema of hands / feet, webbed neck, typical facies (drooping eyelids, widest eyes, low ears, low hairline, shield chest, wide spaced nipples – these are all more obvious at birth.
(3) Get a karyotype.
There are a heap of interventions to consider – mainly Growth hormone to maintain growth prior to epiphyseal fusion, and exogenous oestrogen to develop secondary sexual features.
Also risk of behavioural, learning and social problems – so need to be assessed for these.
Some women with Turners are fertile and so counselling around potential family planning is required later in life.
I am a GP working in Broome, NW of Western Australia. I work as a hospital DMO (District Med Officer) doing Emergency, Anaesthestics, some Obstetrics and a lot of miscellaneous primary care. Also on the web as @broomedocs | + Casey Parker | Contact